Variant report

Variant	nsv588043
Chromosome Location	chr22:16849573-16890125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:743)
CpG islands
(count:429)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:16887810-16887889	K562	blood:	n/a	n/a
2	ATF1	chr22:16849791-16857294	K562	blood:	n/a	n/a
3	ATF1	chr22:16858248-16859843	K562	blood:	n/a	n/a
4	ATF1	chr22:16860063-16862195	K562	blood:	n/a	n/a
5	BATF	chr22:16855750-16856537	GM12878	blood:	n/a	n/a
6	BATF	chr22:16847797-16849592	GM12878	blood:	n/a	n/a
7	BATF	chr22:16856878-16858007	GM12878	blood:	n/a	n/a
8	BATF	chr22:16860452-16861509	GM12878	blood:	n/a	n/a
9	BATF	chr22:16878989-16879233	GM12878	blood:	n/a	n/a
10	BATF	chr22:16853718-16854329	GM12878	blood:	n/a	n/a
11	BATF	chr22:16861525-16862512	GM12878	blood:	n/a	n/a
12	BATF	chr22:16855804-16856508	GM12878	blood:	n/a	n/a
13	BATF	chr22:16851620-16852755	GM12878	blood:	n/a	n/a
14	BATF	chr22:16847840-16852831	GM12878	blood:	n/a	n/a
15	BATF	chr22:16854330-16854923	GM12878	blood:	n/a	n/a
16	BATF	chr22:16855027-16855541	GM12878	blood:	n/a	n/a
17	BATF	chr22:16849883-16851563	GM12878	blood:	n/a	n/a
18	BATF	chr22:16858244-16859358	GM12878	blood:	n/a	n/a
19	BATF	chr22:16852882-16853670	GM12878	blood:	n/a	n/a
20	BATF	chr22:16857092-16857939	GM12878	blood:	n/a	n/a
21	BATF	chr22:16860503-16862547	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:16862169-16862505	GM12878	blood:	n/a	n/a
23	BCL11A	chr22:16857163-16857923	GM12878	blood:	n/a	n/a
24	BCL11A	chr22:16852898-16854337	GM12878	blood:	n/a	n/a
25	BCL11A	chr22:16860508-16861433	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:16850334-16851064	GM12878	blood:	n/a	n/a
27	BCL11A	chr22:16856879-16858006	GM12878	blood:	n/a	n/a
28	BCL11A	chr22:16861559-16862138	GM12878	blood:	n/a	n/a
29	BCL11A	chr22:16849871-16852842	GM12878	blood:	n/a	n/a
30	BCL11A	chr22:16855784-16856803	GM12878	blood:	n/a	n/a
31	BCL11A	chr22:16855892-16856511	GM12878	blood:	n/a	n/a
32	BCL11A	chr22:16849936-16850324	GM12878	blood:	n/a	n/a
33	BCL11A	chr22:16851626-16852373	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:16860442-16862566	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:16848403-16849844	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:16858323-16859754	GM12878	blood:	n/a	n/a
37	BHLHE40	chr22:16860796-16861200	HepG2	liver:	n/a	n/a
38	BHLHE40	chr22:16853904-16854283	HepG2	liver:	n/a	n/a
39	BHLHE40	chr22:16857082-16857914	HepG2	liver:	n/a	n/a
40	BHLHE40	chr22:16870574-16870582	K562	blood:	n/a	n/a
41	BHLHE40	chr22:16872377-16872546	K562	blood:	n/a	n/a
42	BHLHE40	chr22:16849941-16852451	HepG2	liver:	n/a	n/a
43	BHLHE40	chr22:16861535-16862047	HepG2	liver:	n/a	n/a
44	BHLHE40	chr22:16877202-16877290	K562	blood:	n/a	n/a
45	BHLHE40	chr22:16862115-16862524	HepG2	liver:	n/a	n/a
46	BHLHE40	chr22:16848965-16849643	HepG2	liver:	n/a	n/a
47	BHLHE40	chr22:16885131-16885151	K562	blood:	n/a	n/a
48	BHLHE40	chr22:16868902-16868931	K562	blood:	n/a	n/a
49	BHLHE40	chr22:16855822-16856477	HepG2	liver:	n/a	n/a
50	BHLHE40	chr22:16885451-16885761	K562	blood:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:16871766-16871816	NT2-D1	testis:	n/a
2	chr22:16871766-16871816	HCPEpiC	choroid plexus:	n/a
3	chr22:16871766-16871816	NT2-D1	testis:	n/a
4	chr22:16871766-16871816	HCPEpiC	choroid plexus:	n/a
5	chr22:16871766-16871816	HEEpiC	esophagus:	n/a
6	chr22:16867554-16867604	PrEC	prostate:	n/a
7	chr22:16864863-16864913	LNCaP	prostate:	n/a
8	chr22:16868464-16868514	LNCaP	prostate:	n/a
9	chr22:16867554-16867604	AG04449	skin:	fetal
10	chr22:16868045-16868095	GM06990	blood:	n/a
11	chr22:16867554-16867604	HIPEpiC	eye:	n/a
12	chr22:16867554-16867604	PANC-1	pancreas:	n/a
13	chr22:16867554-16867604	Jurkat	blood:	n/a
14	chr22:16867774-16867824	HUVEC	blood vessel:	n/a
15	chr22:16868464-16868514	HNPCEpiC	eye:	n/a
16	chr22:16867837-16867887	MCF10A-Er-Src	breast:	n/a
17	chr22:16868045-16868095	LNCaP	prostate:	n/a
18	chr22:16867554-16867604	ECC-1	luminal epithelium:	n/a
19	chr22:16867554-16867604	HCF	heart:	n/a
20	chr22:16864863-16864913	SK-N-MC	brain:	n/a
21	chr22:16871766-16871816	GM12891	blood:	n/a
22	chr22:16868464-16868514	SAEC	small airway:	n/a
23	chr22:16868045-16868095	HCM	heart:	n/a
24	chr22:16864863-16864913	T-47D	breast:	n/a
25	chr22:16864863-16864913	SK-N-SH	brain:	n/a
26	chr22:16871766-16871816	A549	lung:	n/a
27	chr22:16864863-16864913	AoSMC	blood vessel:	n/a
28	chr22:16868464-16868514	NHBE	bronchial:	n/a
29	chr22:16864863-16864913	GM12892	blood:	n/a
30	chr22:16867837-16867887	Caco-2	colon:	n/a
31	chr22:16868464-16868514	A549	lung:	n/a
32	chr22:16864863-16864913	HPAEpiC	pulmonary alveolar:	n/a
33	chr22:16867774-16867824	HEEpiC	esophagus:	n/a
34	chr22:16867554-16867604	LNCaP	prostate:	n/a
35	chr22:16871766-16871816	SK-N-SH	brain:	n/a
36	chr22:16871766-16871816	PFSK-1	brain:	n/a
37	chr22:16867774-16867824	AG10803	skin:	n/a
38	chr22:16867554-16867604	NH-A	brain:	n/a
39	chr22:16868464-16868514	SK-N-SH_RA	brain:	n/a
40	chr22:16871766-16871816	Jurkat	blood:	n/a
41	chr22:16868045-16868095	CMK	blood:	n/a
42	chr22:16868464-16868514	BJ	skin:	n/a
43	chr22:16864863-16864913	HEEpiC	esophagus:	n/a
44	chr22:16864863-16864913	GM06990	blood:	n/a
45	chr22:16867554-16867604	GM19239	blood:	n/a
46	chr22:16864863-16864913	Hepatocyte	liver:	n/a
47	chr22:16871766-16871816	MCF-7	breast:	n/a
48	chr22:16868464-16868514	NH-A	brain:	n/a
49	chr22:16868045-16868095	H1-hESC	embryonic stem cell:	embryo
50	chr22:16868045-16868095	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ABCD1P4	TF binding region
ENSG00000226160	TF binding region
ABCD1P4	CpG island
ENSG00000226160	CpG island

Extended variants
information (count: 3368 )
Associated
traits (count: 201 )

Variant overlapped rSNPs/rCNVs (count:3368 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112435201	chr22:16849573-16849574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530903605	chr22:16849609-16849610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549196484	chr22:16849616-16849617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567329471	chr22:16849618-16849619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs79488192	chr22:16849623-16849624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374179545	chr22:16849626-16849627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528263547	chr22:16849627-16849628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546595937	chr22:16849631-16849632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571528921	chr22:16849646-16849647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201938790	chr22:16849654-16849655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200362371	chr22:16849655-16849656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201072238	chr22:16849675-16849676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111636391	chr22:16849681-16849682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372677397	chr22:16849684-16849685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556989636	chr22:16849690-16849691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569012231	chr22:16849695-16849696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs181172250	chr22:16849702-16849703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535948126	chr22:16849711-16849712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368128754	chr22:16849715-16849716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112527612	chr22:16849725-16849726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371975736	chr22:16849736-16849737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113916712	chr22:16849741-16849742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75428496	chr22:16849747-16849748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574173112	chr22:16849751-16849752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75342883	chr22:16849759-16849760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150728590	chr22:16849760-16849761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146722648	chr22:16849761-16849762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541578896	chr22:16849762-16849763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201720323	chr22:16849764-16849765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369542541	chr22:16849774-16849775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199792329	chr22:16849797-16849798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577914413	chr22:16849803-16849804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372953404	chr22:16849807-16849808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375871803	chr22:16849812-16849813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113706426	chr22:16849817-16849818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113247753	chr22:16849823-16849824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563328032	chr22:16849832-16849833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199720267	chr22:16849836-16849837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77911850	chr22:16849843-16849844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201608765	chr22:16849845-16849846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs529184746	chr22:16849846-16849847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371849783	chr22:16849849-16849850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542779388	chr22:16849861-16849862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112504535	chr22:16849864-16849865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7290278	chr22:16849871-16849872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528287088	chr22:16849889-16849890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139230365	chr22:16849895-16849896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143466095	chr22:16849911-16849912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142842736	chr22:16849920-16849921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140534303	chr22:16849921-16849922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:201)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Epilepsy	20923578	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
Schizophrenia	19197363	CNVD
Esophageal cancer	21851588	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:16847800-16857400	ZNF genes & repeats	Fetal Heart	heart
2	chr22:16847800-16862400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:16847800-16862400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:16847800-16862400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr22:16847800-16862400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr22:16847800-16862400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:16847800-16862400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr22:16847800-16862600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr22:16848000-16852200	ZNF genes & repeats	NH-A	brain
10	chr22:16848000-16852400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:16848000-16854600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
12	chr22:16848000-16855000	ZNF genes & repeats	Gastric	stomach
13	chr22:16848000-16856600	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr22:16848000-16856800	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr22:16848000-16859200	ZNF genes & repeats	GM12878-XiMat	blood
16	chr22:16848000-16862200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr22:16848000-16862200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr22:16848000-16862200	ZNF genes & repeats	Fetal Lung	lung
19	chr22:16848000-16862200	ZNF genes & repeats	HUVEC	blood vessel
20	chr22:16848000-16862200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr22:16848000-16862400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr22:16848000-16862400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr22:16848000-16862400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr22:16848000-16862400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:16848000-16862400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr22:16848000-16862400	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr22:16848000-16862400	ZNF genes & repeats	Liver	Liver
28	chr22:16848000-16862400	ZNF genes & repeats	Fetal Brain Male	brain
29	chr22:16848000-16862400	ZNF genes & repeats	HepG2	liver
30	chr22:16848200-16850400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
31	chr22:16848200-16853200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr22:16848200-16856200	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr22:16848200-16859000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
34	chr22:16848200-16862200	ZNF genes & repeats	Fetal Kidney	kidney
35	chr22:16849200-16862400	ZNF genes & repeats	K562	blood
36	chr22:16849600-16853600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr22:16849800-16856600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:16849800-16856600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr22:16849800-16856800	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr22:16850000-16851000	ZNF genes & repeats	HMEC	breast
41	chr22:16850000-16851200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:16850000-16851400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr22:16850000-16851800	ZNF genes & repeats	Aorta	Aorta
44	chr22:16850000-16852000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:16850000-16852000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
46	chr22:16850000-16852600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr22:16850000-16856400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr22:16850600-16855000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
49	chr22:16851200-16856600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
50	chr22:16851400-16852000	ZNF genes & repeats	A549	lung

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